| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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C | 0.890 | GeneticVariation | CLINVAR | |||||||||
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G | 0.860 | CausalMutation | CLINVAR | |||||||||
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A | 0.830 | CausalMutation | CLINVAR | |||||||||
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C | 0.830 | CausalMutation | CLINVAR | |||||||||
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T | 0.820 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
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0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
0.730 | GeneticVariation | UNIPROT | ||||||||||
|
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
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0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
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|
|
0.040 | GeneticVariation | BEFREE | It is not yet clear, however, if the hypertriglyceridemia observed in the proband is associated with the presence of the E1(Gly127----Asp, Arg158----Cys) variant. | 6323533 | 1984 | |||||||
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|
|
0.020 | GeneticVariation | BEFREE | It is not yet clear, however, if the hypertriglyceridemia observed in the proband is associated with the presence of the E1(Gly127----Asp, Arg158----Cys) variant. | 6323533 | 1984 | |||||||
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0.830 | GeneticVariation | BEFREE | Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. | 3038959 | 1987 |